Incidental Mutation 'IGL01129:Pfn4'
| ID |
52483 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pfn4
|
| Ensembl Gene |
ENSMUSG00000020639 |
| Gene Name |
profilin family, member 4 |
| Synonyms |
2900024P18Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01129
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
4819022-4828813 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4825505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 114
(V114E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136765
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020967]
[ENSMUST00000178879]
[ENSMUST00000219438]
[ENSMUST00000219503]
|
| AlphaFold |
Q9D6I3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020967
AA Change: V114E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020967
Gene: ENSMUSG00000020639
AA Change: V114E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Profilin
|
4 |
124 |
5.4e-29 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178879
AA Change: V114E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136765
Gene: ENSMUSG00000020639
AA Change: V114E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Profilin
|
5 |
124 |
9.1e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219438
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219503
AA Change: V114E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933436I01Rik |
A |
T |
X: 66,964,210 (GRCm39) |
F216L |
possibly damaging |
Het |
| Bace2 |
T |
G |
16: 97,209,630 (GRCm39) |
N181K |
probably damaging |
Het |
| Cc2d1a |
G |
T |
8: 84,870,033 (GRCm39) |
H161N |
probably benign |
Het |
| Ckap2 |
C |
T |
8: 22,659,774 (GRCm39) |
G569D |
probably damaging |
Het |
| Col11a1 |
T |
C |
3: 113,979,522 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,535,846 (GRCm39) |
D939N |
unknown |
Het |
| Creb3l2 |
A |
T |
6: 37,330,569 (GRCm39) |
|
probably benign |
Het |
| Cuedc1 |
T |
A |
11: 88,074,080 (GRCm39) |
S205T |
possibly damaging |
Het |
| Cux1 |
G |
A |
5: 136,333,572 (GRCm39) |
|
probably benign |
Het |
| Cyp3a59 |
A |
G |
5: 146,035,089 (GRCm39) |
M256V |
probably benign |
Het |
| Gzf1 |
C |
A |
2: 148,532,916 (GRCm39) |
P690Q |
probably damaging |
Het |
| Lrch3 |
T |
A |
16: 32,815,335 (GRCm39) |
D575E |
probably benign |
Het |
| Lypd3 |
A |
G |
7: 24,340,018 (GRCm39) |
M362V |
probably benign |
Het |
| Mppe1 |
C |
A |
18: 67,370,515 (GRCm39) |
G61* |
probably null |
Het |
| Nr2c2 |
T |
A |
6: 92,135,397 (GRCm39) |
D328E |
probably benign |
Het |
| Or6b9 |
T |
C |
7: 106,555,634 (GRCm39) |
N170D |
probably damaging |
Het |
| Rab14 |
T |
C |
2: 35,073,398 (GRCm39) |
|
probably benign |
Het |
| Slc30a9 |
G |
T |
5: 67,499,486 (GRCm39) |
G315C |
probably damaging |
Het |
| Spag16 |
A |
T |
1: 69,935,681 (GRCm39) |
S303C |
probably benign |
Het |
| Spata16 |
C |
T |
3: 26,967,333 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
C |
7: 127,120,823 (GRCm39) |
V161A |
probably damaging |
Het |
| Srd5a3 |
A |
G |
5: 76,297,593 (GRCm39) |
|
probably benign |
Het |
| Vmn1r18 |
A |
T |
6: 57,367,482 (GRCm39) |
F24Y |
probably benign |
Het |
| Vmn1r78 |
A |
T |
7: 11,887,165 (GRCm39) |
T259S |
probably benign |
Het |
| Zc3h13 |
G |
A |
14: 75,573,439 (GRCm39) |
D1527N |
probably damaging |
Het |
|
| Other mutations in Pfn4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01522:Pfn4
|
APN |
12 |
4,820,240 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01726:Pfn4
|
APN |
12 |
4,824,446 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02896:Pfn4
|
APN |
12 |
4,825,451 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2082:Pfn4
|
UTSW |
12 |
4,825,439 (GRCm39) |
splice site |
probably null |
|
|
R2201:Pfn4
|
UTSW |
12 |
4,824,382 (GRCm39) |
splice site |
probably null |
|
|
R4373:Pfn4
|
UTSW |
12 |
4,820,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4376:Pfn4
|
UTSW |
12 |
4,820,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4377:Pfn4
|
UTSW |
12 |
4,820,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4692:Pfn4
|
UTSW |
12 |
4,824,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6762:Pfn4
|
UTSW |
12 |
4,825,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7711:Pfn4
|
UTSW |
12 |
4,824,414 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8125:Pfn4
|
UTSW |
12 |
4,825,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8861:Pfn4
|
UTSW |
12 |
4,825,456 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9300:Pfn4
|
UTSW |
12 |
4,825,442 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
| Posted On |
2013-06-21 |
Incidental Mutation